Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
Giardiinae	NCBITaxon_68459
chromosome 9p deletion syndrome	DOID_0060732	[A chromosome deletion syndrome characterized by trigonocephaly, flattened occiput midface hypoplasia, long philtrum, prominent forehead, broad flat nasal bridge, anteverted nares, malformed external ears, hypertelorism, hypertonia, delayed psychomotor development and that has_material_basis_in a contiguous gene deletion on the short arm of chromosome 9.]
junctional epidermolysis bullosa with pyloric atresia	DOID_0060733	[A junctional epidermolysis bullosa characterized by generalized blistering at birth with congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract and that has_material_basis_in mutations in the ITGB4 or ITGA6 genes.]
epidermolysis bullosa simplex Dowling-Meara type	DOID_0060735	[An epidermolysis bullosa simplex characterized by generalized non-scarring skin blistering that often occurs in clusters, progressive hyperkeratosis of the palms and soles, clumping of keratin filaments in basal epidermal cells and that has_material_basis_in mutation in either the KRT5 or KRT14 genes. This is the most severe of the epidermolysis bullosa simplex types and may result in neonatal or infant lethality in some cases.]
epidermolysis bullosa simplex Ogna type	DOID_0060736	[An epidermolysis bullosa simplex characterized by skin blisters originating in the deepest areas of the basal cell cytoplasm just above the hemidesmosomes, skin bruising and that has_material_basis_in heterozygous mutation in the PLEC1 gene on chromosome 8q24.]
obsolete bovine anaplasmosis	DOID_4350
ovarian embryonal carcinoma	DOID_5681	[An embryonal carcinoma that is located_in the ovary.]
embryonal testis carcinoma	DOID_5680	[An embryonal carcinoma that is located_in the testis.]
obsolete Complication of labor and/or delivery	DOID_3020
ciliary body cancer	DOID_4352
ciliary body disease	DOID_4353
iris cancer	DOID_3478
obsolete primary Anaplasmataceae infectious disease	DOID_4351
acute kidney failure	DOID_3021
obsolete complication of the puerperium	DOID_3022
iris disease	DOID_240
spondyloepimetaphyseal dysplasia, Sponastrime type	DOID_5684	[A spondyloepimetaphyseal dysplasia that is characterized by spondylar and nasal changes, with striations of the metaphyses that has_material_basis_in autosomal recessive inheritance.]
prostatic acinar adenocarcinoma	DOID_3024
prostate adenocarcinoma	DOID_2526	[A prostate carcinoma that derives_from epithelial cells of glandular origin.]
obsolete regressing malignant melanoma	DOID_4356